Canonical Allele Identifier: PA2828063053
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1355379
ClinVar RCV Id: RCV001876487
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349448.1:p.Ile388Leu
CA413787481
NM_001362519.1:c.1162A>C
CA413787482
NM_001362519.1:c.1162A>T